AiPD: Autoinhibited Protein Database

Q8IVU9

Gene name	CABCOCO1
Protein name	Ciliary-associated calcium-binding coiled-coil protein 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:219621
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

109-182 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

109-182 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q8IVU9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IVU9-F1	Predicted				AlphaFoldDB

196 variants for Q8IVU9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5514724 rs769982964	2	D>A		No	ClinGen ExAC gnomAD
rs769982964 CA5514723	2	D>G		No	ClinGen ExAC gnomAD
rs762205676 CA5514722	2	D>H		No	ClinGen ExAC gnomAD
rs762205676 CA377071962	2	D>N		No	ClinGen ExAC gnomAD
rs199658810 CA5514726	4	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5514727 rs373852330	5	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1334803917 CA377071992	6	I>M		No	ClinGen TOPMed
rs760513956 CA5514728	7	Q>P		No	ClinGen ExAC TOPMed
rs760513956 CA377071996	7	Q>R		No	ClinGen ExAC TOPMed
TCGA novel	8	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764156557 COSM919358 CA5514729	11	F>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1270732974 CA377072034	12	M>I		No	ClinGen Ensembl
CA5514730 rs753650458	12	M>R		No	ClinGen ExAC TOPMed gnomAD
CA5514731 rs757163513	13	T>S		No	ClinGen ExAC gnomAD
CA377072058 rs1323605510	16	A>G		No	ClinGen gnomAD
rs1310429676 CA377072060	17	M>L		No	ClinGen gnomAD
rs757855714 CA5514735	17	M>T		No	ClinGen ExAC gnomAD
rs1333054602 CA377072068	18	S>T		No	ClinGen gnomAD
CA5514737 rs573495799	19	L>F		No	ClinGen ExAC TOPMed gnomAD
CA377072080 rs1457133654	20	Q>*		No	ClinGen gnomAD
rs1460431289 CA377072089	21	N>Y		No	ClinGen TOPMed
rs1166934650 CA377072097	22	L>I		No	ClinGen TOPMed
TCGA novel	23	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769015104 CA5514738	24	T>A		No	ClinGen ExAC gnomAD
CA5514761 rs756415400	26	H>R		No	ClinGen ExAC gnomAD
CA377072744 CA377072743 rs1312777080	27	M>I		No	ClinGen gnomAD
CA377072742 rs1254603084	27	M>R		No	ClinGen gnomAD
rs778100741 CA5514762	27	M>V		No	ClinGen ExAC gnomAD
CA5514763 rs749725890	28	S>F		No	ClinGen ExAC gnomAD
CA208513799 rs1030902464	29	L>V		No	ClinGen Ensembl
CA377072786 rs1213019805	33	I>M		No	ClinGen TOPMed gnomAD
rs370292749 CA5514767	33	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs772309016 CA5514768	35	W>*		No	ClinGen ExAC gnomAD
rs1312531323 CA377072804	36	L>F		No	ClinGen gnomAD
rs1210126565 CA377072811	37	G>*		No	ClinGen gnomAD
rs776643809 CA5514769	37	G>E		No	ClinGen ExAC gnomAD
rs1488992779 CA377072816	38	E>K		No	ClinGen TOPMed gnomAD
rs1346600065 CA377072833	40	M>I		No	ClinGen TOPMed
rs1241013203 CA377072830	40	M>L		No	ClinGen gnomAD
rs761853158 CA5514770	40	M>T		No	ClinGen ExAC gnomAD
TCGA novel	40	M>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs151048274 CA5514771	41	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1589121156 CA377072845	42	E>G		No	ClinGen Ensembl
TCGA novel	42	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762857593 CA5514773	44	G>E		No	ClinGen ExAC gnomAD
CA377072862 rs1173581372	45	P>A		No	ClinGen gnomAD
CA5514774 rs765899949	46	T>K		No	ClinGen ExAC gnomAD
rs1393742597 CA377072868	46	T>S		No	ClinGen gnomAD
CA5514776 rs141218791	47	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5514775 rs751257410	47	H>N		No	ClinGen ExAC gnomAD
rs375832103 CA5514777	48	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA377072882 rs375832103	48	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA377072883 rs1233220888	49	Q>K		No	ClinGen gnomAD
CA5514779 rs756611899	49	Q>P		No	ClinGen ExAC gnomAD
CA377072896 rs1415261004	50	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA377072905 rs1589121208	51	S>R		No	ClinGen Ensembl
CA5514780 rs143859270	52	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1469662570 CA377072916	53	D>G		No	ClinGen TOPMed
CA5514781 rs749588751	53	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1283005657 CA377072922	54	W>*		No	ClinGen gnomAD
CA377072925 rs1589121237	54	W>*		No	ClinGen Ensembl
rs888875709 CA208513802	54	W>R		No	ClinGen TOPMed gnomAD
CA208513803 rs926994690	56	I>F		No	ClinGen Ensembl
rs757659205 CA377072957	58	D>E		No	ClinGen ExAC gnomAD
rs778961824 CA377072962	59	V>A		No	ClinGen ExAC gnomAD
rs778961824 CA5514783	59	V>E		No	ClinGen ExAC gnomAD
rs746105821 CA5514784	61	Q>K		No	ClinGen ExAC gnomAD
CA5514785 rs368301430	62	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA208513804 rs768774071	63	N>H		No	ClinGen TOPMed
CA5514786 rs146885684	63	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs541630928 CA5514787	64	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs768210673 CA208513805	65	I>V		No	ClinGen TOPMed gnomAD
CA208513807 rs962002634	66	I>T		No	ClinGen TOPMed gnomAD
CA5514788 rs769832782	68	Y>C		No	ClinGen ExAC gnomAD
CA5514789 rs773226613	69	L>S		No	ClinGen ExAC gnomAD
rs1348138372 CA377073038	71	I>N		No	ClinGen TOPMed gnomAD
CA377073040 rs1348138372	71	I>S		No	ClinGen TOPMed gnomAD
rs762616677 CA5514790	72	S>I		No	ClinGen ExAC gnomAD
CA5514812 rs775144043	74	F>C		No	ClinGen ExAC gnomAD
CA208514284 rs868541157 COSM231211	75	Q>*	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs868541157 CA377073245	75	Q>K		No	ClinGen gnomAD
CA5514813 rs114060974	77	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5514814 rs763663927	78	K>E		No	ClinGen ExAC gnomAD
rs754239887 CA377073273	78	K>N		No	ClinGen ExAC gnomAD
rs140653838 CA5514818	80	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377073287 rs1258363838	81	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	82	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs572107180 CA5514819	84	F>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1425974312 CA377073318	85	Y>H		No	ClinGen gnomAD
CA5514820 rs374393780	85	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA377073330 rs1589123938	86	S>F		No	ClinGen Ensembl
CA5514821 rs751837382	89	E>G		No	ClinGen ExAC TOPMed gnomAD
CA377073344 rs1167183130	89	E>K		No	ClinGen TOPMed gnomAD
CA5514822 rs754958507	91	I>T		No	ClinGen ExAC gnomAD
rs781321991 CA5514823	93	I>L		No	ClinGen ExAC TOPMed gnomAD
rs748248447 CA5514824	94	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5514825 rs770873852	96	E>K		No	ClinGen ExAC gnomAD
CA5514826 rs778867368	96	E>V		No	ClinGen ExAC gnomAD
CA5514850 rs137977526	97	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5514851 rs370434652	99	I>M		No	ClinGen ESP ExAC gnomAD
rs912067668 CA208521476	99	I>T		No	ClinGen gnomAD
CA5514852 rs769194811	100	E>D		No	ClinGen ExAC gnomAD
rs763544681 CA5514854	101	V>I		No	ClinGen ExAC gnomAD
CA208521477 rs763544681	101	V>L		No	ClinGen ExAC gnomAD
CA5514855 rs767061850	102	V>F		No	ClinGen ExAC gnomAD
CA377072178 rs374104809	106	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs374104809 CA5514856	106	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368297777 CA5514857	106	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA5514858 rs767726379	107	G>D		No	ClinGen ExAC gnomAD
CA5514859 rs149071916	108	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756148887 CA5514860	109	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5514861 rs764169830	110	P>T		No	ClinGen ExAC
rs1238349450 CA377072218	112	P>L		No	ClinGen TOPMed gnomAD
CA377072217 rs1238349450	112	P>R		No	ClinGen TOPMed gnomAD
rs1259190997 COSM348276 CA377072219	113	L>M	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs758325979 CA5514863	113	L>R		No	ClinGen ExAC gnomAD
CA377072231 rs1369670991	115	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751345566 CA5514865	116	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1272361339 CA377072239	116	G>R		No	ClinGen TOPMed gnomAD
rs751345566 CA377072243	116	G>V		No	ClinGen ExAC gnomAD
CA5514866 rs762848424	118	S>L		No	ClinGen ExAC TOPMed gnomAD
rs780830270 CA5514868	119	F>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs780830270 CA5514867	119	F>S		No	ClinGen ExAC gnomAD
rs769629521 CA377072273	121	I>N		No	ClinGen ExAC TOPMed gnomAD
rs769629521 CA5514869	121	I>S		No	ClinGen ExAC TOPMed gnomAD
rs1299607624 CA377072281	122	Y>*		No	ClinGen gnomAD
CA5514870 rs777421090	122	Y>C		No	ClinGen ExAC gnomAD
rs777421090 CA208521479	122	Y>S		No	ClinGen ExAC gnomAD
CA208521480 rs78603477	123	S>*		No	ClinGen Ensembl
rs143081316 CA5514872	128	P>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs143081316 CA5514873	128	P>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1460158336 CA377072324	129	P>L		No	ClinGen gnomAD
rs1163725062	130	T>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5514875 rs772324361	130	T>I		No	ClinGen ExAC gnomAD
rs142705866 CA5514876	134	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5514880 rs761929336	136	M>I		No	ClinGen ExAC TOPMed gnomAD
CA377072370 rs147002438	136	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5514879 rs147002438	136	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA377072410 rs761814732	140	D>H		No	ClinGen ExAC TOPMed gnomAD
CA5514897 rs761814732	140	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1335965114 CA377072420	141	Q>P		No	ClinGen TOPMed
rs376917011 CA5514898	143	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	144	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138221401 CA208521552	145	P>A		No	ClinGen ESP TOPMed gnomAD
rs138221401 CA208521553	145	P>S		No	ClinGen ESP TOPMed gnomAD
CA377072446 rs138221401	145	P>T		No	ClinGen ESP TOPMed gnomAD
rs1589159066 CA377072452	146	E>K		No	ClinGen Ensembl
rs1382991163 CA377072463	147	E>V		No	ClinGen TOPMed
TCGA novel	150	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377072488 rs1435875460	151	E>G		No	ClinGen TOPMed gnomAD
CA5514899 rs531051840	151	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759389754 CA5514900	154	T>S		No	ClinGen ExAC gnomAD
rs752415805 CA5514903 CA5514902	157	M>I		No	ClinGen ExAC gnomAD
CA377072537 rs1487577036	158	D>G		No	ClinGen TOPMed
rs1289630799 CA377072534	158	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs375217844 CA5514904	159	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA377072557 rs1217421040	161	V>A		No	ClinGen TOPMed
rs1992625 CA377072571 CA377072572	163	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5514906 rs756765492	164	T>I		No	ClinGen ExAC gnomAD
rs778270785 CA377072581	165	I>N		No	ClinGen ExAC TOPMed gnomAD
CA5514907 rs778270785	165	I>T		No	ClinGen ExAC TOPMed gnomAD
rs745447908 CA5514908	170	S>L		No	ClinGen ExAC gnomAD
rs1442014127 CA377072624	171	V>A		No	ClinGen gnomAD
CA5514910 rs780658531	176	T>I		No	ClinGen ExAC gnomAD
rs1241098259 CA377072664	177	D>E		No	ClinGen TOPMed gnomAD
CA377072697 rs1255268202	182	G>A		No	ClinGen gnomAD
CA5514912 rs139303682	182	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1219501164 CA377073061	185	T>N		No	ClinGen gnomAD
CA5514931 rs149575759	186	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA208522061 rs781533395	187	I>L		No	ClinGen ExAC gnomAD
CA5514932 rs781533395	187	I>V		No	ClinGen ExAC gnomAD
TCGA novel	187	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765205713 CA5514933	188	N>K		No	ClinGen ExAC TOPMed gnomAD
rs373680911 CA208522062	188	N>S		No	ClinGen ESP TOPMed gnomAD
CA5514934 rs376865516	189	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs773509307 CA5514935	191	L>Q		No	ClinGen ExAC gnomAD
rs150798723 CA377073098	191	L>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1038212823 CA208522064	193	I>K		No	ClinGen TOPMed
rs749291153 CA5514936	194	Q>L		No	ClinGen ExAC gnomAD
CA208522065 rs750571047	197	A>S		No	ClinGen Ensembl
CA5514937 rs771051627	197	A>V		No	ClinGen ExAC gnomAD
rs760673103 CA5514939	198	F>S		No	ClinGen ExAC gnomAD
rs776533552 CA5514942	200	A>E		No	ClinGen ExAC TOPMed gnomAD
CA5514940 rs370094095	200	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs776533552 CA5514941	200	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5514943 rs373539789	201	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs750121888 CA377073164	201	R>L		No	ClinGen ExAC TOPMed gnomAD
rs750121888 CA5514944	201	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5514945 rs181026716	202	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1482086333 CA377073166	202	I>V		No	ClinGen gnomAD
CA377073184 rs1475000545	204	K>N		No	ClinGen gnomAD
rs1031142540 CA208522066	204	K>R		No	ClinGen TOPMed gnomAD
CA377073188 rs1421356630	205	L>*		No	ClinGen gnomAD
rs1421356630 CA377073189	205	L>S		No	ClinGen gnomAD
TCGA novel	205	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1289111709 CA377073214	208	A>V		No	ClinGen TOPMed

No associated diseases with Q8IVU9

No regional properties for Q8IVU9

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8IVU9

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cell projection, cilium, flagellum	Colocalized with pericentrin at centrosome of spermatocytes and round spermatids
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
sperm flagellum	A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid.

1 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A1A4V9	CFAP119	Cilia- and flagella-associated protein 119	Homo sapiens (Human)	PR

10	20	30	40	50	60
MDFSIIQYSK	FMTLLAMSLQ	NLKTLHMSLE	ESIKWLGEVM	AEIGPTHSQK	SEDWNIFDVK
70	80	90	100	110	120
QANAIIDYLK	ISLFQHYKLY	EFMFYSAREE	IVIGTEQVIE	VVKSACGPFP	NPLEEGISFD
130	140	150	160	170	180
IYSTFIEPPT	ILDTEMKRLD	QEQGPEESQP	ETDTSDMDPL	VGFTIEDVKS	VLDQVTDDIL
190	200
IGIQTEINEK	LQIQEEAFNA	RIEKLKKA